What is Turner syndrome?

Turner syndrome is one of several syndromes of abnormal sex differentiation. Most females have a pair of sex chromosomes designated as XX, and most males have a pair of sex chromosomes designated as XY. In Turner syndrome, which only affects females, there is a partially or completely missing X chromosome.

Symptoms

Children with Turner syndrome can be very different from one another, and symptoms vary greatly from child to child. Some common symptoms include:

• Webbing of the neck

• A broad chest

• Low-set ears

• Low hairline

• Horseshoe-shaped kidneys that usually function normally

• Cardiovascular problems, including structural problems and high blood pressure

• Short stature and delayed growth

• Abnormal puberty: Girls with Turner syndrome do not have ovaries but do have normal female external sex organs. However, because they lack ovaries (and thus the female sex hormone estrogen), girls with Turner do not develop breasts and do not have menstruation during puberty.

• Type 2 diabetes

• Underactive thyroid (hypothyroidism)

Diagnosis

Turner syndrome can be diagnosed at any age. It can be detected before birth if prenatal testing is done. In early childhood, infants with Turner syndrome often have swollen hands and feet. The following tests may be performed: 

• Blood hormone levels

• Echocardiogram (heart ultrasound) 

• Karyotype (chromosome analysis) 

• MRI of the chest 

• Ultrasound of reproductive organs and kidneys 

• Pelvic exam 

Treatment 

There's no cure for Turner syndrome, but certain treatments can help cope with the symptoms and effects of this condition. Hormone treatments with growth hormone and/or other hormones can improve growth and help girls achieve taller heights in adulthood. Estrogen replacement around the age of 12 or 13 may be initiated to stimulate the development of secondary sexual characteristics, such as breasts, and menstruation. If structural heart defects are present, cardiac surgery may be needed.